PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000487683	[[117198374, 117198661], [117198958, 117199115], [117201706, 117201830], [117203529, 117203591], [117215149, 117215227], [117216342, 117216370], [117232097, 117232205], [117237170, 117237248], [117237363, 117237477], [117239199, 117239249], [117240299, 117240459], [117241472, 117241617], [117243204, 117243314], [117244269, 117244691]]	None
ENST00000332958	[[117198422, 117198661], [117198958, 117199115], [117201706, 117201830], [117203529, 117203591], [117215149, 117215227], [117216342, 117216370], [117232097, 117232205], [117237170, 117237248], [117237363, 117237477], [117239199, 117239249], [117240299, 117240459], [117241472, 117241617], [117243204, 117243314], [117244269, 117244387], [117245831, 117245954], [117246615, 117246822], [117248189, 117248702], [117249921, 117250134], [117252493, 117253326]]	[[117198438, 117198661], [117198958, 117199115], [117201706, 117201830], [117203529, 117203591], [117215149, 117215227], [117216342, 117216370], [117232097, 117232205], [117237170, 117237248], [117237363, 117237477], [117239199, 117239249], [117240299, 117240459], [117241472, 117241617], [117243204, 117243314], [117244269, 117244387], [117245831, 117245954], [117246615, 117246822], [117248189, 117248702], [117249921, 117250134], [117252493, 117252669]]
ENST00000471966	[[117205951, 117206208], [117215149, 117215227], [117216342, 117216370], [117232097, 117232205], [117237170, 117237248], [117237363, 117237477], [117239199, 117239273]]	None
NM_173560	[[117198375, 117198661], [117198958, 117199115], [117201706, 117201830], [117203529, 117203591], [117215149, 117215227], [117216342, 117216370], [117232097, 117232205], [117237170, 117237248], [117237363, 117237477], [117239199, 117239249], [117240299, 117240459], [117241472, 117241617], [117243204, 117243314], [117244269, 117244387], [117245831, 117245954], [117246615, 117246822], [117248189, 117248702], [117249921, 117250134], [117252493, 117253326]]	[[117198438, 117198661], [117198958, 117199115], [117201706, 117201830], [117203529, 117203591], [117215149, 117215227], [117216342, 117216370], [117232097, 117232205], [117237170, 117237248], [117237363, 117237477], [117239199, 117239249], [117240299, 117240459], [117241472, 117241617], [117243204, 117243314], [117244269, 117244387], [117245831, 117245954], [117246615, 117246822], [117248189, 117248702], [117249921, 117250134], [117252493, 117252669]]

Promoter

Chrom	Start	End	Description
chr6	117198376	117198383	CAGE_peak_2_at_RFX6_5end
chr6	117198400	117198441	CAGE_peak_1_at_RFX6_5end
chr6	117198458	117198464	CAGE_peak_4_at_RFX6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I116877	116877202	116877261	0.93	[{'connected_gene': 'RFX6', 'score': 550.77}, {'connected_gene': 'GC06M116870', 'score': 550.77}, {'connected_gene': 'GC06P116959', 'score': 0.18}]
chr6	GH06I116829	116829039	116829098	0.61	[{'connected_gene': 'GPRC6A', 'score': 550.77}, {'connected_gene': 'RFX6', 'score': 0.25}, {'connected_gene': 'GC06M116870', 'score': 0.25}]
chr6	GH06I116948	116948341	116949304	0.78	[{'connected_gene': 'GC06P116959', 'score': 0.39}, {'connected_gene': 'RFX6', 'score': 0.19}, {'connected_gene': 'GC06M116870', 'score': 0.19}]